Autism is a neurodevelopmental condition of variable severity with lifelong effects that can be recognized from early childhood, chiefly characterized by difficulties with social interaction & communication & by restricted or repetitive patterns of thought and behaviour.
- Pathophysiology of Autism
Autism Spectrum Disorder (ASD) arises from complex interactions between genetic susceptibilities and environmental influences that disrupt key pathways guiding brain development. Variations in genes encoding RNA-binding proteins, elongation factors, receptors such as GTPases and kinases, and cell-adhesion or cytoskeletal proteins impair dendritic mRNA translation and protein synthesis, thereby disturbing major signaling pathways, including the Pten/mTOR/TSC pathway, and altering synaptic processes involving receptors like mGluR1/5. These molecular abnormalities contribute to atypical synapse formation, excitatory-inhibitory imbalance, and structural differences in regions including the cerebellum and limbic system. Environmental factors-such as maternal metabolic conditions-may further promote oxidative stress and epigenetic changes. At the same time, immune dysregulation, mitochondrial dysfunction, and gut-brain axis disturbances add additional layers of vulnerability, collectively shaping the neurobiological basis of ASD.
MBH/AB